A splicing mutation (891+4A-->G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family.
Pras
E
E
Department of Medicine C and the Genetic Institute, Sheba Medical Center, Tel-Hashomer, Israel.
Golomb
E
E
Drake
C
C
Aksentijevich
I
I
Katz
G
G
Kastner
D L
DL
D017398:Alternative Splicing / Q000235:genetics*; D026923:Amino Acid Transport Systems, Basic; D018912:Arabs; D002352:Carrier Proteins / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics* / Q000652:urine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007514:Islam; D007557:Israel; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human; D004247:DNA